Articles tagged with Genetic Testing
Researchers at Vanderbilt University Medical Center developed a predictive model to identify patients who may benefit from genetic testing based on routine information in electronic health records. The model accurately classified over 87% of cases and 96% of controls, and identified potential patients with rare undiagnosed diseases.
A recent study by the American Chemical Society tested five at-home rapid tests, finding they were relatively easy to use with accurate results compared to lab testing. The cost and access to these tests are concerns, but community programs can help offset costs and build trust in testing.
The new test combines electrochemical biosensors with engineered protein constructs to detect coronaviruses with high precision. It can be used on unprocessed blood or saliva samples, making it a game-changer for containing the COVID-19 pandemic.
A simple diagnostic tool has been developed to predict the individual risk of developing Alzheimer's disease with over 90% accuracy. The algorithm combines data from a simple blood test and brief memory tests, and has been shown to be significantly more accurate than clinical predictions by dementia experts.
Researchers at Harvard Medical School analyze the genetic makeup of gut bacteria and find links to various diseases including coronary artery disease, inflammatory bowel disease, and liver cirrhosis. The study identifies groups of bacterial genes that can predict disease risk or identify presence, paving the way for developing tests.
A team of scientists at Stanford University and Cincinnati Children's have found a potentially effective compound, AG1296, to treat pulmonary arterial hypertension (PAH). The compound was identified using human, PAH-specific stem cells as a drug screening platform.
Researchers at Duke University Medical Center developed a gene expression method that can quickly identify the source of respiratory symptoms. The test has been shown to be accurate in distinguishing between viral and bacterial infections, with results available in under an hour, improving clinical care.
Researchers at the University of Minnesota Medical School discovered a novel gene, JAG2, associated with a specific form of muscular dystrophy. The study found a distinct pattern of abnormalities on muscle MRI that may aid in identifying patients with this condition.
The ACMG Foundation has awarded the 2021 Carolyn Mills Lovell Genetic Counselor Award to Adrienne Bailey and Renee S. Jones, acknowledging their exceptional work in genetic counseling. The award recognizes their platform presentations on innovative approaches to patient education and genetic testing.
Researchers at Ohio State University found COVID-19 virus genetic material persists in dust for up to a month, suggesting it could be used to monitor outbreaks. The study suggests dust monitoring could offer an alternative method to wastewater testing, particularly in high-risk communities.
A new test for Lyme disease has been developed to reliably distinguish between early- and late-stage patients. The test targets genetic sequences left by a virus in Lyme-causing bacteria and can detect as few as one bacterial cell in a small blood sample, making it highly sensitive.
A new genetic test has been developed by U of M researchers to identify Palmer Amaranth, which can cause significant yield loss in corn, soybean, and cotton crops. The test, which shows 99.9% accuracy, could be commercially available by the end of 2021.
The B.1.1.7 variant of COVID-19 is spreading rapidly in the US, with a 40-50% increase in transmissibility compared to previous dominant variants. The analysis suggests that future case numbers and mortality rates will be higher than expected.
Researchers at Nanyang Technological University have developed a VaNGuard test that can detect the virus causing COVID-19, even with mutations. The test uses gene-editing tool CRISPR and yields results in 30 minutes, making it faster and more affordable than traditional tests.
A UK study found that the SARS-CoV-2 variant B.1.1.7 spread rapidly in care homes across England, reflecting its rapid growth in the general population. The proportion of infections caused by this variant increased sharply between late November and December, with a notable rise among older residents.
A new study shows whole genome sequencing is at least as accurate and often better than conventional genetic tests for determining blood cancer treatment. The study found that sequencing identified additional genetic abnormalities in 17% of cases, changing the risk category for 19 patients.
Researchers analyzed 18,463 Finnish samples to track genetic ancestry from 1923 to 1987. The study found significant changes associated with WWII and urbanization, capturing a detailed history of Finland's population in space and time.
Researchers at Mayo Clinic have combined a functional test with clinical information to determine the clinical importance of BRCA2 gene variants of uncertain significance. The findings improved reclassification rates for VUS from 10% to 86%, enabling more accurate patient care and targeted therapy options.
A large-scale study published in the BMJ found that genetic testing technology widely used by commercial companies is unreliable in detecting very rare variants. The study analyzed data from nearly 50,000 people and found that the technology produced false positive results for rare disease-causing genetic variants in over 80% of cases.
A USC-led study finds that Native Hawaiians with more Polynesian ancestry are at higher risk for type 2 diabetes, heart failure, and obesity. The study analyzed the genomes of 3,940 Native Hawaiians and found an 11% increase in heart failure risk per 10% increase in Polynesian ancestry.
A new study provides insights into the treatment of Christianson syndrome, a genetic brain disease characterized by reduced brain growth and intellectual disability. Researchers successfully tested two main forms of treatment on stem-cell-derived neurons, finding that gene transfer was effective in neurons with nonsense mutations, whil...
A new gene panel test developed by researchers allows for highly accurate diagnosis of liposarcoma types, distinguishing them from benign tumors and other cancers, with a success rate of 93% and costs of US$270 per case.
Researchers discovered a strong link between genetic changes and cerebral palsy, which often co-occurs with other neurodevelopmental disorders. The study identified disease-causing changes in 229 genes, decreasing the risk of recurrence for future children born to affected parents.
Researchers have found a new type of genetic change in people with hypertrophic cardiomyopathy (HCM), which can cause sudden death. This discovery will help doctors predict which family members need to be monitored and which can be ruled out from further tests.
The INTERVENE project aims to develop novel genome-based disease prediction tools using advanced AI approaches on genomic and health data. The project will test these tools in clinical settings for cardiovascular diseases, type 2 diabetes, and breast cancer.
A new Texas A&M AgriLife Research project aims to enable temporary genetic changes in mosquitoes, which then remove themselves from the population. The goal is to test and fine-tune a self-deleting gene technology to control mosquito populations and prevent disease transmission.
A new study assesses the implications of genetic testing for marketing strategy and research, highlighting potential uses and misuses of genetic data. The authors raise concerns about unique features of genetic data, including individual identification and predictive power, that may threaten consumer autonomy and privacy.
A study on lettuce reveals that the genetic basis of leaf heading is controlled by a single gene, LsKN1, which promotes compact head development and prolongs shelf life. The researchers found that a transposon insertion in this gene elevates its expression, leading to heading in crisphead lettuce.
Researchers developed a new test that measures patients' immune response for accurate COVID-19 diagnosis. The test detects distinctive patterns of gene expression in infected individuals, which may help identify false negatives and false positives.
A new study recommends strategies for generating polygenic risk scores that inspire confidence among consumers, reducing variability and improving the accuracy of these scores. By running algorithms multiple times and paying attention to variable elements, companies can improve the quality of scores delivered to customers.
A major new study found that men with two copies of the faulty haemochromatosis genes are 10 times more likely to develop liver cancer by age 75 compared to the general population. Researchers call for routine early testing for the iron overload condition.
The study analyzed national health record data to examine the rate of positive BRCA gene variant tests among older women. Between 2008 and 2018, the trend in positive results varied by age group, with younger women showing a higher increase in positivity.
The study aims to assess the prevalence and attitudes towards workplace genomic testing in diverse workplaces, as well as employees' interest and objections to such testing. The research team will analyze employers' perspectives, employee responses, and potential issues related to genetic privacy and discrimination.
Researchers created a microfluidic chip that can detect COVID-19 in just 30 minutes using CRISPR technology and 'lab on a chip' technology. The test is faster, cheaper, and more reliable than existing methods, with potential applications for detecting other diseases.
A new study reveals that women over 65 with breast cancer have a significant risk of developing the disease due to disease-causing mutations in predisposition genes. The researchers found that up to 20% of these women may still be at high risk for breast cancer, even without prior diagnosis.
A study using next generation genetic sequencing tracks mutations in the SARS-CoV-2 virus, aiding diagnostic testing accuracy and tracking its history. The study found variations in the virus' genetic sequence but none affected current tests, highlighting the importance of ongoing monitoring.
Researchers developed a new method to test potential cancer drugs in mice, allowing them to evaluate multiple genetic variants of the same cancer. This approach could accelerate the development of better treatments by increasing the number of tumour models tested with fewer animals.
A new study suggests genetic risk scoring of lipoprotein(a) can accurately predict atherosclerotic cardiovascular disease, comparable to directly measured levels. This could help physicians identify candidates for treatment or clinical trials, particularly those using direct-to-consumer genetic testing kits.
The University of Queensland's dipstick technology can extract genetic material in 30 seconds and provide a full molecular diagnosis in 40 minutes. This method has the potential to be used for affordable, rapid COVID-19 testing in various settings.
Researchers developed a technique to increase sensitivity of nasal swab tests by recognizing faint signals in diagnostic data. The new method helps spot asymptomatic cases more accurately and reduce false negatives.
A new study published in BMC Biology found that nearly all of the mutations tested had a negative effect on fertility early in life and accelerated reproductive ageing. This suggests that mutations contributing to ageing may be more common than previously thought.
Genetic testing is cost-effective for newly diagnosed metastatic GIST patients, enabling clinicians to prescribe tumor-specific chemotherapy. This approach avoids ineffective treatment and reduces disease progression rates.
A blood-based test accurately predicts nine different respiratory viral infections, including influenza and COVID-19, up to three days before maximum symptoms. The gene expression assay detects the body's natural immune response signals to identify a viral infection with high accuracy.
Researchers have developed two new genetic systems, e-CHACR and ERACR, to halt or eliminate the spread of gene drives in the wild. These systems use CRISPR technology to neutralize gene drives, which carry the power to immunize mosquitoes against malarial parasites or act as genetic insecticides.
A new trial suggests that children with asthma may benefit from personalized treatment based on genetic differences. The study found that children with two copies of a specific gene variant experienced an average improvement in quality of life score of 0.42.
A 25-year analysis of PGT for kidney diseases in the Netherlands shows that 65% of couples with at least one successful cycle experienced live births without kidney disease. The study highlights the importance of counseling patients on their reproductive options to make informed choices.
Researchers discovered that neutralizing antibodies provide protection from SARS-CoV-2 reinfection in a group of sailors who tested positive for these antibodies before embarking on a voyage. The high percentage of infected crew members highlights the importance of vaccination in preventing reinfections.
A recent trial found that genetic testing can significantly reduce the risk of serious cardiovascular events after balloon angioplasty. The study used personalized genetic testing to identify patients with a specific gene variation that affects the activation of antiplatelet medication, resulting in a 34% reduction in adverse events.
A new clinical trial, TAILOR-PCI, found that genetic testing can identify patients who may benefit from alternative antiplatelet therapy. The study showed a statistically significant 40% reduction in blood clotting events in patients with the CYP2C19 gene variation who received genotype-guided treatment.
A new molecule called TPPU has been shown to suppress the inflammatory process, reducing inflammation and joint tissue wear and tear in mice with genetically induced arthritis. Arthritic mice treated with TPPU displayed less pain and swelling and had lower clinical scores.
A new blood test has demonstrated remarkable promise in discriminating between individuals with and without Alzheimer's disease. The test measures phospho-tau217, a protein found in tau tangles, and shows great accuracy in detecting the disease, even in its early stages.
Researchers at Nanyang Technological University in Singapore have developed a new, rapid COVID-19 diagnostic test that can produce results in just 36 minutes. The portable test works for other viruses like dengue and can be used in low-resource settings.
A new variety of pinto bean has been developed with a slow-darkening trait, which improves agronomic performance and cooking time. The beans show higher yields compared to regular varieties, benefiting both farmers and consumers.
A research group has identified a novel autoantibody as a major risk factor for recurrent pregnancy loss, with the antibody found in 52 out of 227 patients. The discovery suggests that the antibody may be connected to RPL even after ruling out other common causes.
Researchers have developed a droplet biosensing method that can detect the presence of COVID-19 in a sample in just minutes. This fast and accurate method uses surface-enhanced Raman spectroscopy to analyze viral genetic material, reducing testing time and error margin.
A research team from Göttingen University has re-examined the skin of Dark Ronald XX and found no evidence of the PLOD1 mutation responsible for Warmblood fragile foal syndrome. The study suggests that the disease may have originated from a different genetic source, challenging previous theories.
A study published in Neurology suggests that at least one million Chinese people with epilepsy could be candidates for a standard operation to leave them seizure-free. The study found 108 patients with lesions that could potentially be cured by surgery, with a high success rate of around 70-80%.
A systematic review and network meta-analysis suggest metformin-based therapy as a preferred first-line treatment for drug-naive patients with type 2 diabetes at low cardiovascular risk. Insulin regimens and GLP-1 RAs added to metformin-based background therapy produced the greatest reductions in hemoglobin A1c level.
A patient-personalized sequencing pipeline, INVAR, enhances the sensitivity of circulating tumor DNA (ctDNA) detection in plasma samples. This technique analyzes hundreds of patient-specific mutations to detect ctDNA, enabling more accurate monitoring and potentially early relapse spotting.
A new study by Johns Hopkins Medicine found that SARS-CoV-2 testing can yield false negative results if conducted too early in the infection process. The test's accuracy improved when patients displayed symptoms of COVID-19, but even then had a 20% chance of a false negative result.